title: Improved diagnostic procedures in attenuated mucopolysaccharidosis.
abstract: General physicians and rheumatologists play a key role in suspecting a diagnosis of mucopolysaccharidosis for a range of multi-organ presenting symptoms in adults. Prompt diagnosis and treatment maximizes outcomes for these rare and extremely debilitating diseases. Earlier diagnosis may help to prevent irreversible disease.
authors.affiliation: Department of Inherited Metabloic Disorders, Birmingham Children's Hospital, NHS Foundation Trust, Birmingham, UK.
authors.forename: Chris
authors.initials: C
authors.lastname: Hendriksz
mesh_terms: D003937:Diagnosis, Differential; D042241:Early Diagnosis; D056947:Enzyme Replacement Therapy; D005260:Female; D006801:Humans; D008875:Middle Aged; D009083:Mucopolysaccharidoses / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D012017:Referral and Consultation